Name: _____________________________________________Date:___________

Ms. Randall LE
Unit 6: Genetics and Inheritance

Unit Objectives:

Describe how Mendel studied inheritance of peas and his conclusions.

Describe how Punnett squares are used by geneticists as probability of inheritance.
Summarize the relationship between genes and DNA.
Describe the overall structure of DNA.
Summarize the events of DNA replication
Compare and contrast RNA’s and DNA’s structure and function.
Name the different types of RNA
Describe the process and products of transcription and translation
Explain the relationship between genes and proteins
Contrast gene mutations and chromosomal mutations
To relate biotechnology to the production of products or organisms with useful traits.

Focus Questions for the Unit:

What are the roles of DNA and RNA in protein synthesis?

How can manipulation of DNA produce new characteristics?
How can humans change DNA to create benefits?

Define the following vocabulary:

Inheritance RNA
Genes Gene expression
Alleles Nucleotide
Chromosomes Adenine/guanine/cytosine/thymine
Offspring Protein
Parent Transcription
Phenotype Translation
Genotype Replication
Recombination Amino acid
Mutation Genetic engineering
DNA
Lesson 1: Mendel and the Pea Date:_____________

Objective: To describe how Mendel studied inheritance of peas and his conclusions. To describe how Punnett squares
are used by geneticists as probability of inheritance.

Genetics is the study of heredity. Heredity: is the passing of genetic information from an organism to its offspring.

All Organisms Inherit Traits from Parents

By the 1890's, the invention of better microscopes allowed biologists to discover the basic facts of cell division and
sexual reproduction. The focus of genetics research then shifted to understanding what really happens in the
transmission of hereditary traits from parents to children. A number of hypotheses were suggested to explain heredity,
but Gregor Mendel, a little known Central European monk, was the only one who got it more or less right. His ideas had
been published in 1866 but largely went unrecognized until 1900, which was long after his death. His early adult life was
spent in relative obscurity doing basic genetics research and teaching high school mathematics, physics, and Greek in
Brno (now in the Czech Republic). In his later years, he became the abbot of his monastery and put aside his scientific
work.

While Mendel's research was with plants, the basic underlying principles of heredity that he
discovered also apply to people and other animals because the mechanisms of heredity are
essentially the same for all complex life forms.

Through the selective cross-breeding of common pea plants (Pisum sativum) over many
Common edible peas
generations, Mendel discovered that certain traits show up in offspring without any blending of
parent characteristics. For instance, the pea flowers are either purple or white--intermediate colors do not appear in
the offspring of cross-pollinated pea plants. Mendel observed seven traits that are easily recognized and apparently
only occur in one of two forms:

1. flower color is purple or white 5. seed color is yellow or green

2. flower position is axil or terminal 6. pod shape is inflated or constricted
3. stem length is long or short 7. pod color is yellow or green
4. seed shape is round or wrinkled

This observation that these traits do not show up in offspring plants with intermediate forms was critically important
because the leading theory in biology at the time was that inherited traits blend from generation to generation. Most of
the leading scientists in the 19th century accepted this "blending theory."
Mendel picked common garden pea plants for the focus of his research because they can be grown easily in large
numbers and their reproduction can be manipulated. Pea plants have both male and female reproductive organs. As a
result, they can either self-pollinate themselves or cross-pollinate with another plant. In his experiments, Mendel was
able to selectively cross-pollinate purebred plants with particular traits and observe the outcome over many
generations. This was the basis for his conclusions about the nature of genetic inheritance. Remember, pollen is plant
sperm. Plants reproduce sexually!!!!

Mendel’s Model:

3 steps
a. Mendel self-pollinate to make a pure breed (P generation)
b. Cross pollinate to create a hybrid (F1 generation)
c. Self-pollinate again (F2 generation)

Conclusions:

Model showed that pea plants receive 2 alleles for each trait.
An allele is a different form of a gene.
Genes are pieces of genetic information about traits.
A strong allele is called a dominant allele.
A weak allele is called a recessive allele.

Inheritance-How do we predict traits in offspring?

A Punnett square is a mathematical model for predicting traits in pea plants.

Predict the probability that an offspring will receive a trait from a parent.
 Offspring that inherit the same allele from each parent are called homozygous for that trait.
Offspring that inherit different alleles for the same trait are called heterozygous for that trait. Genes and traits
Appearance of an organism-phenotype
Set of genes that an organism has-genotype

Mendel's observations from these experiments can be summarized in two principles:

1. the Principle of Segregation

2. the Principle of Independent Assortment

According to the Principle of segregation, for any particular trait, the pair of alleles of each parent separate and only one
allele passes from each parent on to an offspring. Which allele in a parent's pair of alleles is inherited is a matter of
chance. We now know that this segregation of alleles occurs during the process of meiosis ( gamete formation )

Segregation of alleles in the production of sex cells

According to the Principle of Independent Assortment, different pairs of alleles are passed to offspring independently of
each other. The result is that new combinations of genes present in neither parent are possible. For example, a pea
plant's inheritance of the ability to produce purple flowers instead of white ones does not make it more likely that it will
also inherit the ability to produce yellow pea seeds in contrast to green ones. Likewise, the principle of independent
assortment explains why the human inheritance of a particular eye color does not increase or decrease the likelihood of
having 6 fingers on each hand. Today, we know this is due to the fact that the genes for independently assorted traits
are located on different chromosomes.

These two principles of inheritance, along with the understanding of unit inheritance and dominance, were the
beginnings of our modern science of genetics. However, Mendel did not realize that there are exceptions to these rules.
Check your understanding:

1. An Allele is

a. Another word for a gene

b. A homozygous genotype
c. A heterozygous genotype
d. One of several possible forms of a gene

2. A phenotype refers to the_____________of an individual

a. Genetic make-up
b. Actual physical appearance
c. Recessive alleles

3. When the genotype consists of a dominant and a recessive allele, the phenotype will be like
_________________ allele.
a. The dominant
b. The recessive
c. Neither

4. Assuming that both parent plants in the diagram below are homozygous, why would all of the f1 generation
have yellow phenotypes?

a. Because f1 genotypes are homozygous

b. Because yellow is dominant over green
c. Because both parents passes on yellow alleles

5. The idea that different pairs of alleles are passed to offspring independently is Mendel's principle of:
a. Independent assortment
b. Segregation
c. Unit inheritance

6. The idea that for any particular trait, the pair of alleles of each parent separate and only one allele from each
parent passes to an offspring is Mendel's principle of:
a. Independent assortment
b. Segregation
c. hybridization
Practice: Read these passages from the text and answer the questions that follow.

Mendel’s First Set of Experiments

At first, Mendel experimented with just one characteristic at a time. He began with flower color. As shown in the figure
below, Mendel cross-pollinated purple- and white-flowered parent plants. The parent plants in the experiments are
referred to as the P (for parent) generation.

This diagram shows Mendel’s first experiment with pea plants. The F1 generation results from cross-pollination of two
parent (P) plants. The F2 generation results from self-pollination of F1 plants.

F1 and F2 Generations
The offspring of the P generation are called the F1 (for filial, or “offspring”) generation. As you can see from the figure
above, all of the plants in the F1 generation had purple flowers. None of them had white flowers. Mendel wondered
what had happened to the white-flower characteristic. He assumed some type of inherited factor produces white
flowers and some other inherited factor produces purple flowers. Did the white-flower factor just disappear in the F1
generation? If so, then the offspring of the F1 generation — called the F2 generation — should all have purple flowers
like their parents. To test this prediction, Mendel allowed the F1 generation plants to self-pollinate. He was surprised by
the results. Some of the F2 generation plants had white flowers. He studied hundreds of F2 generation plants, and for
every three purple-flowered plants, there was an average of one white-flowered plant.

Law of Segregation
Mendel did the same experiment for all seven characteristics. In each case, one value of the characteristic disappeared
in the F1 plants and then showed up again in the F2 plants. And in each case, 75 percent of F2 plants had one value of
the characteristic and 25 percent had the other value. Based on these observations, Mendel formulated his first law of
inheritance. This law is called the law of segregation. It states that there are two factors controlling a given
characteristic, one of which dominates the other, and these factors separate and go to different gametes when a parent
reproduces.
Questions

1. What did Mendel do in his first experiment?

2. What was the outcome of the F1 generation in Mendel’s first experiment?

3. What was the outcome of the F2 generation in Mendel’s first experiment?

4. Did Mendel repeat his initial experiment with other characteristics? What were his results?

5. Explain the law of segregation. Discuss the reasoning Mendel used to develop this law.
Practice: Punnett Square

KEY CONCEPTS
Probability can be used to predict the results In addition to probability, a special chart called a
of genetic crosses. Punnett square is used to show the possible gene
combinations in a cross between two organisms.

A phenotype refers to ______________________________________________.

A genotype refers to _______________________________________________.

Directions: Using the definitions you stated above, answer the questions about the following diagram.

F1 1. What are the

phenotypes of the
parents?
__________________
___________

2. What are the

genotypes of the
parents?
______________________________

3. What are the phenotypes of the offspring? ____________________________

4. What are the genotypes of the offspring? _____________________________

Directions: Based on the figure above, answer the questions that follow.

1. What are the phenotypes of the parents? _____________________________

2. What are the genotypes of the parents? _____________________________

3. What are the phenotypes of the F2 offspring? __________________________

4. What are the genotypes of the F2 offspring? ___________________________

5. How can you explain the fact that the offspring that has a BB genotype and
one that has a Bb genotype are both black? ___________________________
______________________________________________________________

6. Can a white offspring be a hybrid (heterozygous), why? _________________

______________________________________________________________
Directions: Demonstrate your understanding of Punnett squares and probability by completing the test cross in the
Punnett square and answering the questions.

Directions: After completing the Punnett square show the relationship between the Punnett square and probability by
answering these questions.

1. What is the probability of getting a white offspring from this cross?

______________________________________________________________

2. What is the probability of getting a black purebred offspring from this cross?
Note: Read this question carefully and think about it.
______________________________________________________________
______________________________________________________________

3. Try to explain your answer?

______________________________________________________________
______________________________________________________________
Lesson 2: Pedigrees Karyotypes and Genetic Counseling Date: _______

Objective: Describe how pedigrees and karyotypes are used by geneticists for predicting probability of inheritance.

Chromosomes are structures which contain DNA. DNA is composed of genes. A person’s genotype is their genetic
makeup. Their phenotype is their physical appearance.

DNA Replication

The DNA molecule untwists and unzips. Enzymes match up to free floating nucleotides to one of the original DNA
strands. One DNA strand acts as a temple (pattern or guide) for a new strand.
In order to ensure genetic continuity, DNA replication must occur before cell division.

During Meiosis…
Homologous chromosomes- are same size and shape (one from each parent)
This allows for crossing over and variation to occur.
Genetic Recombination:

The sperm and egg combine to form a new cell. The new cell (offspring) has a complete set of genetic information
(DNA). Each offspring is unique. The inherited genes determine a person’s genotype and phenotype.

A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or
organism and its ancestors from one generation to the next.
It is a family tree of sorts. The symbols used for a pedigree are:

female, unaffected

female, affected Siblings are placed in birth order from left to right and are
labeled with Arabic numerals. Each generation is labeled
male, unaffected with a Roman numeral. Therefore, the male exhibiting
the trait in the pedigree below in the bottom, center would
male, affected be identified as III-4.

-------------------------------------------------------------

I
1 2 3 4 5 6

II
1 2 3 4 5 6 7 8 9

III
1 2 3 4 5 6 7 8

Karyotyping

A karyotype is an organized profile of a person's chromosomes. Two chromosomes specify gender — XX for
female and XY for male. The rest are arranged in pairs, numbered 1 through 22, from largest to smallest. This
arrangement helps scientists quickly identify chromosomal alterations that may result in a genetic disorder.

To make a karyotype, scientists take a picture of the chromosome from one cell, cut them out, and arrange them
using size, banding pattern, and centromere position as guide.
Genetic Disorders

A Mutation is a change in a gene and can be caused by chemicals, radiation, pollution, during cell reproduction. Genetic
Disorders can be caused by the passing on of a dominant mutated gene. Genetic counseling is the process by which the
patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the
probability of developing or transmitting it, and the options open to them in management and family planning. Genetic
counseling can help predict problems with a pedigree.

a. PKU(phenylketonuria):
A baby is born without the ability to properly break down an amino acid called phenylalanine.

b. Sickle Cell Anemia:

A genetic blood disorder which makes red blood cells have abnormal, sickle shape because of a mutation in the
hemoglobin gene

c. Tay-Sachs Disease:
A genetic defect in a single gene with one defective copy of that gene inherited from each parent causing brain
damage and death before age 4

d. Cystic Fibrosis:
An inherited disease that causes thick, stick mucus to build up in the lungs and digestive tract

e. Down’s syndrome:
Also known as trisomy 21, it is a genetic disorder caused by the presence of all or part of a third copy of
chromosome 21.[1] It is typically associated with physical growth delays, characteristic facial features, and mild to
moderate intellectual disability
Check your understanding:

I
1 2 3 4 5 6

II
1 2 3 4 5 6 7 8 9

III
1 2 3 4 5 6 7 8

Try to identify the genotypes of all of the individuals above.

1. Is this trait dominant or recessive? Explain your answer.

2. Could you have known the genotype of II-3 and II-4 before they had children? What gave you the essential
information to decide that they were heterozygous?
 Practice: Human Pedigrees

By studying a human pedigree, you can determine whether a trait is

dominant or recessive. To interpret the three pedigrees below, use the same key shown at the right. Of course,
the individual with the trait could be homozygous dominant or heterozygous dominant.

A. This pedigree shows the inheritance of attached earlobes for four generations.

Is the trait for attached earlobes, versus free earlobes, dominant or recessive?__________________ How do you know?
_________________________________________________________________
________________________________________________________________________________

B. The pedigree shows the inheritance of tongue rolling.

Is this trait dominant or recessive? __________________ Explain.____________________________

________________________________________________________________________________

C. This pedigree shows the inheritance of colorblindness, a sex linked trait.

Is this trait dominant or recessive? __________________ Is the mother of the colorblind girl in the F3 generation colorblind, a
carrier, or a person with normal color vision?__________________________
Explain. __________________________________________________________________________
________________________________________________________________________________
Lesson 3: DNA Date: ___________

Objective: To describe the overall structure of DNA and summarize the events of DNA replication

DNA structure

Although it may look complicated, the DNA in a cell is really just a pattern made up of four different parts called
nucleotides. Imagine a set of blocks that has only four shapes, or an alphabet that has only four letters. DNA is a long
string of these blocks or letters. Each nucleotide consists of a sugar (deoxyribose) bound on one side to a phosphate
group and bound on the other side to a nitrogenous base.

There are two classes of nitrogen bases called purines (double-ringed structures) and pyrimidines (single-ringed
structures). The four bases in DNA's alphabet are:

adenine (A) - a purine

cytosine(C) - a pyrimidine
guanine (G) - a purine
thymine (T) - a pyrimidine

Strands of DNA are made of the sugar and phosphate portions of the nucleotides, while the middle parts are made of
the nitrogenous bases. The nitrogenous bases on the two strands of DNA pair up, purine with pyrimidine (A with T, G
with C), and are held together by weak hydrogen bonds.

Watson and Crick discovered that DNA had two sides, or strands, and that these strands were twisted together like a
twisted ladder -- the double helix. The sides of the ladder comprise the sugar-phosphate portions of adjacent
nucleotides bonded together. The phosphate of one nucleotide is covalently bound (a bond in which one or more pairs
of electrons are shared by two atoms) to the sugar of the next nucleotide. The hydrogen bonds between phosphates
cause the DNA strand to twist. The nitrogenous bases point inward on the ladder and form pairs with bases on the other
side, like rungs. Each base pair is formed from two complementary nucleotides (purine with pyrimidine) bound together
by hydrogen bonds. The base pairs in DNA are adenine with thymine and cytosine with guanine.
DNA Replication

DNA carries the information for making all of the cell's proteins. These proteins implement all of the functions of a living
organism and determine the organism's characteristics. When the cell reproduces, it has to pass all of this information
on to the daughter cells.

Before a cell can reproduce, it must first replicate, or make a copy of, its DNA. Where DNA replication occurs depends
upon whether the cells are a prokaryote or a eukaryote DNA replication occurs in the cytoplasm of prokaryotes and in
the nucleus of eukaryotes. Regardless of where DNA replication occurs, the basic process is the same.

The structure of DNA lends itself easily to DNA replication. Each side of the double helix runs in opposite (anti-parallel)
directions. The beauty of this structure is that it can unzip down the middle and each side can serve as a pattern or
template for the other side (called semi-conservative replication). However, DNA does not unzip entirely. It unzips in a
small area called a replication fork, which then moves down the entire length of the molecule. Different enzymes can
then work to unwind, keep the strands temporarily separated, and copy the original strand by creating a new strand
using the complimentary base pairs. DNA building enzymes can also proofread for mistakes and repair anything that
doesn’t seem correct most of the time.

Different types of cells replicated their DNA at different rates. Some cells constantly divide, like those in your hair and
fingernails and bone marrow cells. Other cells go through several rounds of cell division and stop (including specialized
cells, like those in your brain, muscle and heart). Finally, some cells stop dividing, but can be induced to divide to repair
injury (such as skin cells and liver cells). In cells that do not constantly divide, the cues for DNA replication/cell division
come in the form of chemicals. These chemicals can come from other parts of the body (hormones) or from the
environment.

Check your understanding: Complete each statement below.

1. ________________ ,guanine (G), cytosine (C), and thymine (T) are the four nitrogenous bases in DNA.

2. In DNA, ________________ always forms hydrogen bonds with guanine (G).

3. The sequence of ________________ carries the genetic information of an organism.

4. The process of ________________ produces a new copy of an organism's genetic information, which is passed
on to a new cell.

5. The double-coiled shape of DNA is called a ________________.

6. A nucleotide is composed of the following three substances_____________, _____________and

___________________.
Practice:

Replicate the following DNA molecules. Use a different color pens (or pencils) to show the difference between the
original and new strands of DNA
Lesson 4: Protein synthesis Date: __________

Objective: Describe the process and products of transcription and translation

DNA carries all of the information for your physical characteristics, which are essentially determined by proteins. So,
DNA contains the instructions for making a protein. In DNA, each protein is encoded by a gene (a specific sequence of
DNA nucleotides that specify how a single protein is to be made). Specifically, the order of nucleotides within a gene
specifies the order and types of amino acids that must be put together to make a protein.

How does DNA encode the information for a protein? There are only four DNA bases, but there are 20 amino acids that
can be used for proteins. So, groups of three nucleotides form a word (codon) that specifies which of the 20 amino acids
goes into the protein.

Building a Protein: Transcription

Building proteins is very much like building a house:

The master blueprint is DNA, which contains all of the information to build the new protein (house).
The working copy of the master blueprint is called messenger RNA (mRNA), which is copied from DNA.
The construction site is either the cytoplasm in a prokaryote or the endoplasmic reticulum (ER) in a eukaryote.
The building materials are amino acids.
The construction workers are ribosomes and transfer RNA molecules.

Let's look at each phase of the new construction more closely.

In a eukaryote, DNA never leaves the nucleus, so its information must be copied. This copying process is called
transcription and the copy is mRNA. Transcription takes place in the cytoplasm (prokaryote) or in the nucleus
(eukaryote). The transcription is performed by an enzyme called RNA polymerase. To make mRNA, RNA polymerase:

1. Binds to the DNA strand at a specific sequence of the gene called a promoter
2. Unwinds and unlinks the two strands of DNA
3. Uses one of the DNA strands as a guide or template
4. Matches new nucleotides with their complements on the DNA strand (G with C, A with U -- remember that RNA
has uracil (U) instead of thymine (T))
5. Binds these new RNA nucleotides together to form a complimentary copy of the DNA strand (mRNA)
6. Stops when it encounters a termination sequence of bases (stop codon)

mRNA is happy to live in a single-stranded state (as opposed to DNA's desire to form complementary double-stranded
helixes). The working copy of the blueprint (mRNA) must now go the construction site where the workers will build the
new protein. If the cell is a prokaryote such as an E. coli bacterium, then the site is the cytoplasm. If the cell is a
eukaryote, such as a human cell, then the mRNA leaves the nucleus through large holes in the nuclear membrane
(nuclear pores) and goes to the endoplasmic reticulum (ER).

In summary:

DNA is used as a template to make mRNA (the messenger)

Occurs in the nucleus
4 bases of RNA: Adenine (A), Uracil (U), Guanine (G) and Cytosine (C)
 DNA RNA
A U
T A
C G
G C

mRNA leaves the nucleus and travels to the ribosome of the cell.

Next, we'll learn about translation -- the assembly process.

Building a Protein: Translation

To continue with our house example, once the working copy of the blueprint has reached the site, the workers must
assemble the materials according to the instructions; this process is called translation. In the case of a protein, the
workers are the ribosomes and special RNA molecules called transfer RNA (tRNA). The construction materials are the
amino acids.

Translation is the final step on the way from DNA to protein. It is the synthesis of proteins directed by a mRNA template.
The information contained in the nucleotide sequence of the mRNA is read as three letter words (triplets), called
codons. Each word stands for one amino acid.

During translation amino acids are linked together to form a polypeptide chain which will later be folded into a protein.
The translation is dependent on many components, of which two are extra important. First of all; the ribosome is the
cellular factory responsible for the protein synthesis. It consists of two different subunits, one small and one large and is
built up from rRNA and proteins. Inside the ribosome the amino acids are linked together into a chain through multiple
biochemical reactions.

The second component is the tRNA, a specialized RNA molecule that carries an amino acid at one end and has a triplet of
nucleotides, an anticodon, at the other end. The anticodon of a tRNA molecule can base pair, i.e form chemical bonds,
with the mRNA's three letter codon. Thus the tRNA acts as the translator between mRNA and protein by bringing the
specific amino acid coded for by the mRNA codon.
How do we know the amino acid code? We use the universal code chart!!!!

The Genetic Code

How is the information in a gene encoded? The answer is the genetic code. The genetic code consists of the sequence of
nitrogen bases — A, C, G, T (or U) — in a polynucleotide chain. The four bases make up the “letters” of the genetic code.
The letters are combined in groups of three to form code “words,” called codons. Each codon stands for (encodes) one
amino acid, unless it codes for a start or stop signal. There are 20 common amino acids in proteins. There are 64 possible
codons, more than enough to code for the 20 amino acids.

Reading the Genetic Code

As shown in the Genetic Code, the codon AUG codes for the amino acid methionine. This codon is also the start codon
that begins translation. The start codon establishes the reading frame of mRNA. The reading frame is the way the letters
are divided into codons. After the AUG start codon, the next three letters are read as the second codon. The next three
letters after that are read as the third codon, and so on. The mRNA molecule is read, codon by codon, until a stop codon
is reached. UAG, UGA, and UAA are all stop codons. They do not code for any amino acids.

Characteristics of the Genetic Code

The genetic code has a number of important characteristics.

•The genetic code is universal. All known living things have the same genetic code. This shows that all organisms share a
common evolutionary history.
•The genetic code is unambiguous. Each codon codes for just one amino acid (or start or stop). What might happen if
codons encoded more than one amino acid?
•The genetic code is redundant. Most amino acids are encoded by more than one codon. What might be an advantage
of having more than one codon for the same amino acid?

Check your understanding:

Directions: Complete the concept map to show how DNA and RNA are alike and how they differ. Use these words or
phrases: ACGT; ACGU, DNA, deoxyribose, double chain, mRNA, no, nucleus, nucleus and cytoplasm, ribose, RNA, rRNA,
tRNA, yes
Practice:

1. Complete the table by checking the correct column for each statement.
Statement DNA RNA
1. Contains ribose
2. Composed of a double chain of nucleotides
3. Contains Deoxyribose
4. Contains Uracil
5. Contains Thymine
6. Composed of a single chain of nucleotides

2. Label the diagram by completing the sequence of nitrogen bases in the mRNA. Use these letters: A, U, C, G, T.

DNA Chain

mRNA Chain

3. Fill in the blanks below. On the illustration of transcription, label the DNA, the newly forming mRNA, the completed
strand of mRNA and a free nucleotide.

Messenger RNA (mRNA) carries the instructions to make a particular _______________ from the DNA in the
_______________ to the ribosomes. The process of producing mRNA from instructions in the DNA is called
_______________.

During transcription, the DNA molecule unwinds and separates, exposing the nitrogenous bases. Free RNA
_______________ pair with the exposed bases. There is no _______________ (T) in RNA. _______________ (U) pairs
with adenine (A) instead. RNA contains the sugar _______________ instead of deoxyribose. The mRNA molecule is
completed by the formation of _______________ between the RNA _______________, and it then separates from DNA.
The mRNA molecule is a _______________ strand, unlike DNA.

4. Label the parts to the diagram below. Use these choices: transfer RNA (tRNA), amino acid, amino acid chain, codon,
anticodon, messenger RNA (mRNA), and ribosome.
5. Each combination of three nitrogenous bases on the mRNA molecule is a codon, a three-letter code word for a
specific amino acid. The table below shows the mRNA codon for each amino acid. Use the table to answer the
questions below.

1. The codon for trytophan is _______________.

2. For leucine, there are _________different codons.

3. The codon GAU is for _______________.

4. In a stop codon, if the second base is G, the first and third bases are ______ and ______.

Second Base in Code Word

A G U C
Lysine Arginine Isoleucine Theronine A
Lysine Arginine Methionine Theronine G
A
Asparagine Serine Isoleucine Theronine U
Asparagine Serine Isoleucine Theronine C
First G Glutamic Acid Glycine Valine Alanine A Third
Base Base
Glutamic Acid Glycine Valine Alanine G
in in
Code Aspartic Acid Glycine Valine Alanine U Code
Word Aspartic Acid Glycine Valine Alanine C Word
“Stop” condon “Stop” condon Leucine Serine A
“Stop” condon Trytophan Leucine Serine G
U
Tyrosine Cysteine Phenylalanine Serine U
Tyrosine Cysteine Phenylalanine Serine C
Glutamine Arginine Leucine Proline A
Glutamine Arginine Leucine Proline G
C
Histidine Arginine Leucine Proline U
Histidine Arginine Leucine Proline C
Practice: Genetic Chart Worksheet

Complete the following chart using your genetic code chart below:

a. Complete the mRNA codon column by writing the correct mRNA codon for each DNA base sequence
given
b. Identify the process responsible for part A. by writing its name under the process column
c. Write the correct tRNA anticodon that binds to each mRNA codon.
d. Identify the process responsible for part C. by writing its name under the second process column
e. Using your genetic code chart, identify the name of the correct amino acid that is coded by each
mRNA base sequence

DNA Base Sequence Process: mRNA codon Process: tRNA codon Amino Acid:
Transcription ___________

CCC

TAT
GAG
GCG
AAC

DNA Base Sequence Process: mRNA codon Process: tRNA codon Amino Acid:
____________ Translation

TTG

CTC
GGA
TTT
CGC
Lesson 5: Mutations Date: _____________

Objective: Contrast gene mutations and chromosomal mutations

DNA is constantly subject to mutations, accidental changes in its code. Mutations can lead to missing or malformed
proteins, and that can lead to disease.

We all start out our lives with some mutations. If mutation occurs in the sex cells, it may be passed on to offspring.
These mutations inherited from your parents are called germ-line mutations. However, you can also acquire mutations
during your lifetime. Some mutations happen during cell division, when DNA gets duplicated. Still other mutations are
caused when DNA gets damaged by environmental factors, including UV radiation, chemicals, and viruses.
Environmental sources of mutations are called mutagens.

A gene mutation is a change in a gene by substitution of a base, or adding or deleting a base, so that the gene no longer
produces the "normal" protein. A chromosome mutation is a change in the chromosome by loss or duplication of part of
a chromosome or inversion of some of it, or even the presence or absence of an entire chromosome. During meiosis if
the homologous chromosomes fail to separate, a process called nondisjunction, a gamete could end up with either an
extra or missing chromosome.

Few mutations are bad for you. In fact, some mutations can be beneficial. Over time, genetic mutations create genetic
diversity, which keeps populations healthy. Many mutations have no effect at all. These are called silent mutations. But
the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders
include cystic fibrosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others.
All of these disorders are caused by the mutation of a single gene.

Most inherited genetic diseases are recessive, which means that a person must inherit two copies of the mutated gene
to inherit a disorder. This is one reason that marriage between close relatives is discouraged; two genetically similar
adults are more likely to give their child two copies of a defective gene.

Diseases caused by just one copy of a defective gene, such as Huntington's disease, are rare. Thanks to natural selection,
these dominant genetic diseases tend to get weeded out of populations over time, because afflicted carriers are more
likely to die before reproducing.

Scientists estimate that every one of us has between 5 and 10 potentially deadly mutations in our genes-the good news
is that because there's usually only one copy of the bad gene, these diseases don't manifest. Cancer usually results from
a series of mutations within a single cell. Often, a faulty, damaged, or missing p53 gene is to blame. The p53 gene makes
a protein that stops mutated cells from dividing. Without this protein, cells divide unchecked and become tumors.
Check your understanding:

1. A mutation is any mistake or change in the

a. Cell b. DNA sequence c. Ribosomes d. Nucleus

2. A mutation in which a single base is added or deleted from DNA is called

a. A frameshift mutation b. A point mutation
c. Translocation d. Nondisjunction

3. Many chromosome mutations result when chromosomes fail to separate properly during
a. Mitosis b. Meiosis c. Crossing over d. Linkage

4. The failure of homologous chromosomes to separate properly is called __________.

a. Translocation b. Disjunction c. Nondisjunction d. Deletion

5. Mutations that occur randomly are called

a. Spontaneous mutations b. Nonspontaneous mutations
c. Nonrandom mutations d. Environmental mutations

6. An agent that can cause a change in DNA is called a(n)

a. Zygote b. Inversion c. Mutagen d. Mutation
Practice: Read these passages from the text and answer the questions that follow.

Beneficial Mutations
Some mutations have a positive effect on the organism in which they occur. They are called beneficial mutations. They
lead to new version of proteins that help organisms adapt to changes in their environment. Beneficial mutations are
essential for evolution to occur. They increase an organism’s changes of surviving or reproducing, so they are likely to
become more common over time. There are several well-known examples of beneficial mutations. Here are just two:
1. Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs. The mutations lead to
antibiotic-resistant strains of bacteria.
2. A unique mutation is found in people in a small town in Italy. The mutation protects them from developing
atherosclerosis, which is the dangerous buildup of fatty materials in blood vessels. The individual in which the
mutation first appeared has even been identified.

Harmful Mutations

Imagine making a random change in a complicated machine such as a car engine. The chance that the random
change would improve the functioning of the car is very small. The change is far more likely to result in a car that
does not run well or perhaps does not run at all. By the same token, any random change in a gene’s DNA is likely to
result in a protein that does not function normally or may not function at all. Such mutations are likely to be
harmful. Harmful mutations may cause genetic disorders or cancer.

• A genetic disorder is a disease caused by a mutation in one or a few genes. A human example is cystic fibrosis. A
mutation in a single gene causes the body to produce thick, sticky mucus that clogs the lungs and blocks ducts in
digestive organs.

• Cancer is a disease in which cells grow out of control and form abnormal masses of cells. It is generally caused
by mutations in genes that regulate the cell cycle. Because of the mutations, cells with damaged DNA are
allowed to divide without limits. Cancer genes can be inherited.

Questions
1. What is a beneficial mutation?

2. What is a harmful mutation?

3. What type of mutation can cause cancer?

4. How can a mutation result in a genetic disorder? Give an example.

Lesson 6: Gene expression Date:________

Objective: Explain the relationship between genes and proteins

Genes encode proteins and proteins dictate cell function. Therefore, the thousands of genes expressed in a particular
cell determine what that cell can do. Moreover, each step in the flow of information from DNA to RNA to protein
provides the cell with a potential control point for self-regulating its functions by adjusting the amount and type of
proteins it manufactures.

How Is Gene Expression Regulated?

The amounts and types of mRNA molecules in a cell reflect the function of that cell. In fact, thousands of transcripts are
produced every second in every cell. Given this statistic, it is not surprising that the primary control point for gene
expression is usually at the very beginning of the protein production process — the initiation of transcription. RNA
transcription makes an efficient control point because many proteins can be made from a single mRNA molecule.

How Do Different Cells Express the Genes They Need?

Only a fraction of the genes in a cell are expressed at any one time. The variety of gene expression profiles characteristic
of different cell types arise because these cells have distinct sets of transcription regulators. Some of these regulators
work to increase transcription, whereas others prevent or suppress it.

How Is Gene Expression Increased or Decreased in Response to Environmental Change?

In prokaryotes, regulatory proteins are often controlled by nutrient availability. This allows organisms such as bacteria to
rapidly adjust their transcription patterns in response to environmental conditions. Animal such as the Himalayan Rabbit
respond to temperature changes in the environment. When there are cold temperature it turns on gene for black
pigment.

To live, cells must be able to respond to changes in their environment. Regulation of the two main steps of protein
production — transcription and translation — is critical to this adaptability. Cells can control which genes get transcribed
and which transcripts get translated; further, they can biochemically process transcripts and proteins in order to affect
their activity. Regulation of transcription and translation occurs in both prokaryotes and eukaryotes, but it is far more
complex in eukaryotes.

Check your understanding:

Practice: Read these passages from the text and answer the questions that follow.

Eukaryotic Gene Regulation

In eukaryotic cells, the start of transcription is one of the most complicated parts of gene regulation. There may be many
regulatory proteins and regulatory elements involved. Regulation may also involve enhancers. Enhancers are distant
regions of DNA that can loop back to interact with a gene’s promoter region where transcription begins.

The TATA Box

Different types of cells have unique patterns of regulatory elements that result in only the necessary genes being
transcribed. That’s why a skin cell and nerve cell, for example, are so different from each other. However, some patterns
of regulatory elements are common to all genes, regardless of the cells in which they occur. An example is the TATA box.
This is a regulatory element that is part of the promoter of most eukaryotic genes. A number of regulatory proteins bind
to the TATA box, forming a multi-protein complex. It is only when all of the appropriate proteins are bound to the TATA
box that RNA polymerase the enzyme that makes mRNA from the DNA template recognizes the complex and binds to
the promoter. Once RNA polymerase binds, transcription begins.

Regulation During Development

The regulation of gene expression is extremely important during the development of an organism. Regulatory proteins
must turn on certain genes in particular cells at just the right time so the organism develops normal organs and organ
systems. Homeobox genes are an example of genes that regulate development. They code for regulatory proteins that
switch on whole series of major developmental genes. In insects, homeobox genes called hox genes ensure that body
parts such as limbs develop in the correct place.

Questions
1. List three factors involved in eukaryotic gene regulation.

2. Describe the TATA box and its role.

3. Where does RNA polymerase bind to the DNA? What happens next?

4. What is a homeobox gene?

5. What is an enhancer?
Lesson 7 Genetic technology Date: ________

Objective: To relate biotechnology to the production of products or organisms with useful traits.

Genetic engineering is a set of technologies used to change the genetic makeup of cells, including the transfer of genes
within and across species boundaries to produce improved or novel organisms. The techniques involve sophisticated
manipulations of genetic material and other biologically important chemicals.

Genes are the chemical blueprints that determine an organism's traits. Moving genes from one organism to another
transfers those traits. Through genetic engineering, organisms can be given targeted combinations of new genes—and
therefore new combinations of traits—that do not occur in nature and, indeed, cannot be developed by natural means.
Such an approach is different from classical plant and animal breeding, which operates through selection across many
generations for traits of interest. Classical breeding operates on traits, only indirectly selecting genes, whereas
biotechnology targets genes, attempting to influence traits. The potential of biotechnology is to rapidly accelerate the
rate of progress and efficiency of breeding.

Novel organisms

Nature can produce organisms with new gene combinations through sexual reproduction. A brown cow bred to a yellow
cow may produce a calf of a completely new color. But reproductive mechanisms limit the number of new combinations.
Cows must breed with other cows (or very near relatives). A breeder who wants a purple cow would be able to breed
toward one only if the necessary purple genes were available somewhere in a cow or a near relative to cows. A genetic
engineer has no such restriction. If purple genes are available anywhere in nature—in a sea urchin or an iris—those
genes could be used in attempts to produce purple cows. This unprecedented ability to shuffle genes means that genetic
engineers can concoct gene combinations that would never be found in nature.

New risks

Genetic engineering is therefore qualitatively different from existing breeding technologies. It is a set of technologies for
altering the traits of living organisms by inserting genetic material that has been manipulated to extract it from its
source and successfully insert it in functioning order in target organisms. Because of this, genetic engineering may one
day lead to the routine addition of novel genes that have been wholly synthesized in the laboratory. In addition to
desired benefits, novel organisms may bring novel risks as well. These risks must be carefully assessed to make sure that
all effects—both desired and unintended—are benign.

Selective Breeding
For thousands of years new varieties of cultivated plants and domestic animals have resulted from selective breeding
for particular traits. Some selective breeding techniques include artificial selection, where individuals with desirable
traits are mated to produce offspring with those traits. A variation of this process traditionally used in agriculture is
inbreeding, where the offspring produced by artificial selection are mated with one another to reinforce those desirable
traits. Hybridization is a special case of selective breeding. This involves crossing two individuals with different
desirable traits to produce offspring with a combination of both desirable traits. An example of this are Santa Gertrudis
cattle, which were developed by breeding English shorthorn cattle, which provided for good beef, but lacked heat
resistance, with Brahman cattle from India which were highly resistant to heat and humidity. The Santa Gertrudis breed
of cattle has excellent beef, and thrives in hot, humid environments.
 An Example of Selective Breeding

Brahman cattle: English shorthorn Santa Gertrudis cattle:

Good resistance to heat cattle: Good beef but Formed by crossing
but poor beef. poor heat resistance. Brahman and English
shorthorns; has good
heat resistance and
beef.

Genetic Engineering
In recent years new varieties of farm plants and animals have been engineered by manipulating their genetic
instructions to produce new characteristics. This technology is known as genetic engineering or recombinant DNA
technology. Different enzymes can be used to cut, copy (clone), and move segments of DNA. An important category of
enzyme used to cut a section of a gene and its DNA from an organism is known as a restriction enzyme. When this piece
of DNA, which has been cut out of one organism, is placed in another organism, that section of gene will express the
characteristics that were expressed by this gene in the organism it was taken from..

An Example of Genetic Engineering

Knowledge of genetics, including genetic engineering, is making possible new fields of health care. Genetic engineering
is being used to engineer many new types of more efficient plants and animals, as well as provide chemicals needed for
human health care. It may be possible to use aspect of genetic engineering to correct some human health defects.
Some examples of chemicals being mass produced by human genes in bacteria include insulin, human growth hormone,
and interferon. Substances from genetically engineered organisms have reduced the cost and side effects of replacing
missing human body chemicals. While genetic engineering technology has many practical benefits, its use has also
raised many legitimate ethical concerns.

Other Genetic Technologies

Cloning involves producing a group of genetically identical offspring from the cells of an organism. This technique may
greatly increase agricultural productivity. Plants and animals with desirable qualities can be rapidly produced from the
cells of a single organism.

Genetic mapping, which is the location of specific genes inside the chromosomes of cells makes it possible to detect,
and perhaps in the future correct defective genes that may lead to poor health. The human genome project has
involved the mapping of the major genes influencing human traits, thus allowing humans to know the basic framework
of their genetic code

Knowledge of genetics is making possible new fields of health care. Genetic mapping in combination with genetic
engineering and other genetic technologies may make it possible to correct defective genes that may lead to poor
health.

There are many ethical concerns to these advanced genetic technologies, including possible problems associated with
the cloning of humans. Another down side to genetic mapping technologies it is possible that some organizations may
use this genetic information against individuals

Check your understanding:

1. In the cloning shown in Figure 13-4, which sheep is the source of the nucleus in the fused cell?

2. In Figure 13-4, why was the nucleus removed from the egg cell?

3. Which animal in Figure 13-4 is a clone?

4. In the cloning shown in Figure 13-4, which sheep provided an egg cell?

5. Which two animals in Figure 13-4 are genetically identical

Practice: Read the following article and answer the question

Scientists Work to Contain Modified Organisms to Labs

By ANDREW POLLACKJAN. 21, 2015

Photo

Scientists reprogrammed the common bacterium E. coli so it requires a synthetic amino acid to live. Credit Bsip/UIG, via Getty Images

Could genetically modified bacteria escape from a laboratory or fermentation tank and cause disease or ecological
destruction? This is not known to have occurred. But two groups of scientists reported on Wednesday that they had
developed a complex technique to prevent it from happening.

The scientists have given a common type of bacterium a unique genetic code that makes it dependent for survival on
unnatural amino acids that must be fed to it. If such organisms escaped into the wild, where those amino acids are not
available, they would die. “It really addresses a longstanding problem in biotechnology,” said Farren Isaacs, an assistant
professor of molecular, cell and developmental biology at Yale, who led one of the research groups. He called it a “really
compelling solution to engineering biocontainment, or biological barriers that limit the spread and survival of organisms
in natural environments.”

George Church in his lab at Harvard Medical School. Credit Jessica Rinaldi/Reuters

The work was done using E. coli, a species of bacteria used in the production of pharmaceuticals and chemicals. The
researchers said it would be more difficult to apply the technique to genetically modified crops. In some cases, the crops
end up growing where they are not wanted or transmitting their genes to other crops. Outside experts said the work
was an advance from previous attempts at biological containment. “This research represents a step-change towards
building reliable control switches for G.M.O.s,” Karmella A. Haynes, an assistant professor at Arizona State University,
said in an email, using the initials for genetically modified organisms.
A big question, however, is whether these systems are needed or whether they will ever be used. Researchers have
been talking about biological containment since genetic engineering was invented in the 1970s, and many systems have
been developed. Some researchers make organisms dependent on a nutrient not found outside the lab or fermenter.
Others endow the organism with a genetic kill switch that can cause it to self-destruct.

But such safeguards have not been used extensively. There have been no serious accidents attributed to genetically
engineered microbes, said Victor de Lorenzo, a research professor at the Spanish National Biotechnology Center in
Madrid, who has studied these systems. Most industrial applications use containment that is physical, not biological,
meaning that production takes place in enclosed vessels, not in the open environment. Even if the microbes escape,
they, like domesticated animals, are usually not fit to survive in the wild, Dr. de Lorenzo said.

Still, concerns are arising anew because living things are being genetically altered in more extensive ways than before,
through techniques called synthetic biology. And some of the potential uses of genetically altered organisms, like
releasing them to clean up pollution, would take place outside confined areas.

Biotechnology companies are trying to genetically engineer immune system cells so they attack tumors. But when these
engineered cells are infused into patients, they sometimes cause a dangerous immune system overreaction. So some
companies are now incorporating a suicide gene into the engineered cells, so they can be killed by administration of a
drug if things go wrong. A company called Oxitec has developed genetically engineered mosquitoes to fight mosquito-
borne dengue fever. The altered mosquitoes have a gene that kills them unless they get the antibiotic tetracycline. They
can be bred in the laboratory, where the antibiotic is available. But once they are released in the wild to mate with wild
mosquitoes, they soon die, as do their offspring, which inherit the lethal gene, reducing the population of the insect.

The approaches in the two Nature papers were somewhat different, but both built on work done when Dr. Isaacs was a
postdoctoral researcher in Dr. Church’s lab to create an organism that uses a genetic code slightly different from other
life-forms. All life on earth uses the same four chemical units of DNA, represented by the letters A, C, T and G, and
generally the same 20 amino acids, the building blocks of proteins. A three-letter DNA sequence, or codon, tells the cell
to incorporate a particular amino acid into a protein it is making. CTT, for instance, specifies leucine, and GTA valine.
Three of the codons, however, tell the cell to stop construction of a protein.

The researchers replaced one of these stop codons with another one throughout the genome of E. coli, so protein
construction still stopped when it was supposed to. But now the researchers had a spare three-letter combination that
could be used to make the cell incorporate a synthetic amino acid into proteins.

The researchers incorporated such an amino acid into some essential proteins so the bacteria would not survive if they
did not get it. A single mutation would not be enough to escape this dependence, which has been a shortcoming of
previous biocontainment systems. “This approach appears to be much more resilient to mutations that could undo
containment, so it’s exciting stuff,” said Tom Ellis, a senior lecturer in synthetic biology at Imperial College London.

Dr. Church said that because the organism had a unique genetic code, “it’s almost a new kingdom of life” that would
have “trouble exchanging genetic material with any other life-form.” He said that more extensive changes in the genetic
code could conceivably make the organism resistant to all viruses. That would make the bacterial strain attractive to
industry because viral infections can ruin production of drugs, yogurt or other products made using bacteria.

By trying to grow the organisms in lab dishes without the unnatural amino acid, the Harvard researchers could not
detect any survivors among about a trillion organisms while the team led by Dr. Isaacs of Yale could not detect any
survivors out of 400 billion organisms.. That is much better than previous systems, which typically had escape rates
around one in a billion, said Dr. Haynes of Arizona State. (A two-liter container, the size of a soda bottle, might contain
100 billion bacteria.)

There are still questions about whether these highly manipulated cells would be cheap enough and robust enough for
industrial use. And can the same approach be applied to other micro-organisms that are often preferred over E. coli?
“It’s unclear whether it could work on a large scale in relevant species and combined with the genetic changes needed
for industrial use,” said Helen Wallace, the executive director of GeneWatch UK, a British group that monitors
applications of genetic engineering.

Correction: January 31, 2015

An article on Jan. 22 about efforts by two research groups to create genetically engineered bacteria that cannot survive
outside a laboratory misstated the ability of the organisms to survive when denied the nutrient they required. One group
could not detect any survivors among about a trillion organisms. The other could not detect any survivors out of 400
billion organisms. It is not the case that the researchers determined that only about one in a trillion were able to survive.

Question: After reading this article, what concerns do you still have about genetically modified organisms and their
safe use?

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